Table 4: List of Rare Diseases and Related Terms as per US ...

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5041 Renal adysplasia dominant type 5042 Renal agenesis meningomyelocele mullerian defect 5043 Renal caliceal diverticuli deafness 5044 Renal cancer 5045 Renal carcinoma, familial 5046 Renal cell carcinoma 4 5047 Renal coloboma syndrome 5048 Renal dysplasia diffuse autosomal recessive 5049 Renal dysplasia diffuse cystic 5050 Renal dysplasia megalocystis sirenomelia 5051 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 5052 Renal dysplasia-limb defects syndrome 5053 Renal genital middle ear anomalies 5054 Renal glycosuria 5055 Renal hamartomas nephroblastomatosis and fetal gigantism 5056 Renal hypouricemia 5057 Renal oncocytoma 5058 Renal pelvis and ureter, transitional cell cancer 5059 Renal rickets 5060 Renal tubular acidosis 5061 Renal tubular acidosis progressive nerve deafness 5062 Renal tubular acidosis, distal 5063 Renal tubular acidosis, distal, autosomal dominant 5064 Renal tubular acidosis, distal, autosomal recessive 5065 Renal tubular acidosis, distal, type 3 5066 Renal tubular acidosis, distal, type 4 5067 Renal tubular dysgenesis 5068 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA 5069 Renier Gabreels Jasper syndrome 5070 Renoanogenital syndrome 5071 Renoprival hypertension 5072 Renpenning syndrome 1 5073 Resistance to LH (luteinizing hormone) 5074 Respiratory distress syndrome, infant 5075 Restless legs syndrome, susceptibility to, 1 5076 Restless legs syndrome, susceptibility to, 2 5077 Restless legs syndrome, susceptibility to, 3 5078 Restless legs syndrome, susceptibility to, 4
5079 Restless legs syndrome, susceptibility to, 5 5080 Restless legs syndrome, susceptibility to, 6 5081 Reticular dysgenesis 5082 Reticuloendotheliosis 5083 Retinal cone dystrophy 1 5084 Retinal cone dystrophy 2 5085 Retinal cone dystrophy 3A 5086 Retinal cone dystrophy 3B 5087 Retinal cone dystrophy 4 5088 Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 5089 Retinal dysplasia X-linked 5090 Retinal telangiectasia hypogammaglobulinemia 5091 Retinis pigmentosa deafness hypogenitalism 5092 Retinitis pigmentosa 5093 Retinitis pigmentosa 1 5094 Retinitis Pigmentosa 11 5095 Retinitis pigmentosa 12 5096 Retinitis Pigmentosa 13 5097 Retinitis Pigmentosa 14 5098 Retinitis Pigmentosa 15 5099 Retinitis Pigmentosa 17 5100 Retinitis Pigmentosa 18 5101 Retinitis Pigmentosa 19 5102 Retinitis pigmentosa 2, x linked 5103 Retinitis Pigmentosa 20 5104 Retinitis Pigmentosa 22 5105 Retinitis Pigmentosa 23 5106 Retinitis Pigmentosa 24 5107 Retinitis Pigmentosa 25 5108 Retinitis Pigmentosa 26 5109 Retinitis Pigmentosa 28 5110 Retinitis pigmentosa 29 5111 Retinitis pigmentosa 3 5112 Retinitis Pigmentosa 30 5113 Retinitis Pigmentosa 31 5114 Retinitis Pigmentosa 32 5115 Retinitis Pigmentosa 33 5116 Retinitis Pigmentosa 34 5117 Retinitis Pigmentosa 35
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Table 4: List of Rare Diseases and
Page 3 and 4:
77 Acrodysplasia with ossification
Page 5 and 6:
156 Adenosine deaminase deficiency
Page 7 and 8:
235 Alopecia mental retardation syn
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313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
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542 Autosomal recessive neuronal ce
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621 Becker muscular dystrophy 622 B
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699 Blastoma 700 Blastomycosis 701
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777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
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937 Cataract, autosomal recessive c
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1012 Ceroid lipofuscinosis neuronal
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1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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1790 Diamond-Blackfan anemia 2 1791
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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2024 Endocardial fibroelastosis 202
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2102 Erythropoietic uroporphyria as
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2181 Familial exudative vitreoretin
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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2418 Gay Feinmesser Cohen syndrome
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2497 Glucocorticoid resistance 2498
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2577 Gray platelet syndrome 2578 Gr
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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2814 Horner's syndrome 2815 Horsesh
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2894 Hyperlipoproteinemia type 4 28
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2970 Hypopituitarism postaxial poly
Page 79 and 80: 3045 Immune dysfunction with T-cell
Page 81 and 82: 3121 Intravascular papillary endoth
Page 83 and 84: 3201 Juvenile Scleroderma 3202 Juve
Page 85 and 86: 3281 Kohlschutter Tonz syndrome 328
Page 87 and 88: 3360 Lattice corneal dystrophy type
Page 89 and 90: hypogammaglobulinema 3439 Leukoence
Page 91 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93 and 94: 3594 Mal de debarquement 3595 Malak
Page 95 and 96: 3672 Maturity-onset diabetes of the
Page 97 and 98: 3750 Mental retardation arachnodact
Page 99 and 100: 3824 Methylmalonic acidemia with ho
Page 101 and 102: 3901 Mikulicz disease 3902 Miles-Ca
Page 103 and 104: 3977 Muckle-Wells syndrome 3978 Muc
Page 105 and 106: 4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108: 4134 Nance-Horan syndrome 4135 Narc
Page 109 and 110: 4213 Neuromyelitis optica spectrum
Page 111 and 112: 4293 Nystagmus, hereditary vertical
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 4451 Osteopetrosis autosomal domina
Page 117 and 118: 4531 Papular urticaria 4532 Paracoc
Page 119 and 120: 4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122: 4688 Pilotto syndrome 4689 Pineal p
Page 123 and 124: 4766 Pontocerebellar hypoplasia typ
Page 125 and 126: 4844 Primary pigmented nodular adre
Page 127 and 128: 4923 Pseudopelade of Brocq 4924 Pse
Page 129: 5003 Radiation induced cancer 5004
Page 133 and 134: 5157 Rhizomelic syndrome 5158 RHYNS
Page 135 and 136: 5237 Sacral defect with anterior me
Page 137 and 138: 5317 Seckel syndrome 5318 Secretory
Page 139 and 140: 5391 Short stature, cranial hyperos
Page 141 and 142: 5470 Spastic ataxia Charlevoix-Sagu
Page 143 and 144: 5549 Spinocerebellar ataxia 27 5550
Page 145 and 146: 5625 Spondylometaphyseal dysplasia
Page 147 and 148: 5704 Superior limbic keratoconjunct
Page 149 and 150: 5781 T-cell immunodeficiency, conge
Page 151 and 152: 5859 Thyroid cancer, childhood 5860
Page 153 and 154: 5939 Trichomalacia 5940 Trichomegal
Page 155 and 156: 6017 Ulcerative proctitis 6018 Uler
Page 157 and 158: 6096 Verloove Vanhorick Brubakk syn
Page 159 and 160: 6176 Weyers acrofacial dysostosis 6
Page 161 and 162: 6253 X-linked mental retardation Gu
Page 163: Note: 6333 4-hydroxyphenylacetic ac
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Table 4: List of Rare Diseases and Related Terms as per US ...

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